Tuesday 2 July 2013

Chromosomal abnormalities, the miscarriage menace

Chromosomal abnormalities, the miscarriage menace

There is no doubt that my work as an infertility expert is extremely tiring and exhausting. The question is why I am doing it then? The answer is very simple; it gives an immense sense of gratitude and satisfaction as I reach to a happy ending by handing over a cute baby to my patient. However, not all stories are so unfortunate to have such a fine conclusion. There are many slips between the cup and the lips where miscarriage or abortion or abnormal termination of pregnancy what we call it in the technical jargon halts the journey of pregnancy in between. The process of pregnancy is extremely complicated and there are multiple permutations and combinations for miscarriages. Chromosomal abnormalities are the nasty cause where exact reason and treatment is very difficult.

The “why”

Well, it is a speechless moment for me when a disappointed couple asks the same question after a devastating abortion. They have really worked hard and tried their level best to sustain the pregnancy. However, all the dreams shatter one fine morning when miscarriage leaves them in a state of utter disappointment. Frankly speaking chromosomal abnormalities are caused by unknown reasons where the immune system of the mother considers the fetus as a foreign element and “cleans it up” as a normal procedure. There is a theory that says the fetus reaches up to a certain level and then there are particular genetic abnormalities that stop the growth. Sometimes there are a few missing genes or a few unwanted extra genes get developed causing interruption in the growth of the placenta. It ultimately results in miscarriages happens.

The “what”

Interruption in the cell division is the fundamental thing that happens in the miscarriage caused by chromosomal issues. Chromosomal abnormalities share a large percentage in the overall number of miscarriages and statistically around 40 to 47 percent cases are contributed by this factor. Division of cells is extremely complicated process and there are numerous factors that can go incorrect. The numbers of chromosomes go imbalanced and there is no further growth of the fetus.

The “How”

Undoubtedly there is no specific treatment for Chromosomal Abnormalities that cause abortion, but there are surely precaution measures that can help in analyzing and reducing the probability of miscarriage caused by chromosomal abnormalities. Whenever I suspect the slightest chance of such abnormality, there are a few techniques that can help in testing it effectively. Tracing of the genetic makeup is traced with advanced techniques. It is a really frustrating thing for me to do these tests after the miscarriage already happens.

a) Chromosomal testing of the fetal tissues: Although it is a post-facto test, but I prefer it to prevent reoccurrence of miscarriage. I check the genetic pattern of the fetus and try to analyze what exactly caused the termination.

b) Karotyping test: It is a special test for the analysis of chromosomal pattern in the blood. The genetic pattern of the parents is matched with the genetic pattern of the fetus to understand the genetic makeup.

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